Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype
Abstract Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related death worldwide, occurring predominantly in patients with underlying chronic liver disease and cirrhosis. Here, we describe a case of a 62-year-old man that was admitted to our hospital and diagnosed with HCC where...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2024-01-01
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| Series: | Discover Oncology |
| Online Access: | https://doi.org/10.1007/s12672-023-00850-9 |
| _version_ | 1827377289566879744 |
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| author | Mengting Zhu Valentina Rovella Manuel Scimeca Alessandro Mauriello Yufang Shi Julia Bischof Jonathan Woodsmith Alessandro Anselmo Gerry Melino Giuseppe Tisone Massimiliano Agostini |
| author_facet | Mengting Zhu Valentina Rovella Manuel Scimeca Alessandro Mauriello Yufang Shi Julia Bischof Jonathan Woodsmith Alessandro Anselmo Gerry Melino Giuseppe Tisone Massimiliano Agostini |
| author_sort | Mengting Zhu |
| collection | DOAJ |
| description | Abstract Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related death worldwide, occurring predominantly in patients with underlying chronic liver disease and cirrhosis. Here, we describe a case of a 62-year-old man that was admitted to our hospital and diagnosed with HCC where the cancer has already metastasized to the retroperitoneum and peritoneum. In order to better characterize the HCC, both the cancerous liver tissue and the adjacent normal liver tissue of the patient were collected and subjected to a genomic, transcriptomic and proteomic analysis. Our patient carries a highly mutated HCC, which is characterized by both somatic mutation in the following genes ALK, CDK6, TP53, PGR. In addition, we observe several molecular alterations that are associated with potential therapy resistance, for example the expression of the organic-anion-transporting polypeptide (OATP) family members B1 and B3, that mediate the transport of the anticancer drugs, has been found decreased. Overall, our molecular profiling potentially classify the patient with poor prognosis and possibly displaying resistance to pharmacological therapy. |
| first_indexed | 2024-03-08T12:36:55Z |
| format | Article |
| id | doaj.art-e71f761457cc4fd788dcaa1af9f1b8e0 |
| institution | Directory Open Access Journal |
| issn | 2730-6011 |
| language | English |
| last_indexed | 2024-03-08T12:36:55Z |
| publishDate | 2024-01-01 |
| publisher | Springer |
| record_format | Article |
| series | Discover Oncology |
| spelling | doaj.art-e71f761457cc4fd788dcaa1af9f1b8e02024-01-21T12:25:39ZengSpringerDiscover Oncology2730-60112024-01-0115111310.1007/s12672-023-00850-9Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtypeMengting Zhu0Valentina Rovella1Manuel Scimeca2Alessandro Mauriello3Yufang Shi4Julia Bischof5Jonathan Woodsmith6Alessandro Anselmo7Gerry Melino8Giuseppe Tisone9Massimiliano Agostini10Department of Experimental Medicine, TOR, University of Rome Tor VergataDepartment of Experimental Medicine, TOR, University of Rome Tor VergataDepartment of Experimental Medicine, TOR, University of Rome Tor VergataDepartment of Experimental Medicine, TOR, University of Rome Tor VergataThe Third Affiliated Hospital of Soochow University, Institutes for Translational Medicine, Soochow UniversityIndivumed GmbHIndivumed GmbHDepartment of Experimental Medicine, TOR, University of Rome Tor VergataDepartment of Experimental Medicine, TOR, University of Rome Tor VergataDepartment of Experimental Medicine, TOR, University of Rome Tor VergataDepartment of Experimental Medicine, TOR, University of Rome Tor VergataAbstract Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related death worldwide, occurring predominantly in patients with underlying chronic liver disease and cirrhosis. Here, we describe a case of a 62-year-old man that was admitted to our hospital and diagnosed with HCC where the cancer has already metastasized to the retroperitoneum and peritoneum. In order to better characterize the HCC, both the cancerous liver tissue and the adjacent normal liver tissue of the patient were collected and subjected to a genomic, transcriptomic and proteomic analysis. Our patient carries a highly mutated HCC, which is characterized by both somatic mutation in the following genes ALK, CDK6, TP53, PGR. In addition, we observe several molecular alterations that are associated with potential therapy resistance, for example the expression of the organic-anion-transporting polypeptide (OATP) family members B1 and B3, that mediate the transport of the anticancer drugs, has been found decreased. Overall, our molecular profiling potentially classify the patient with poor prognosis and possibly displaying resistance to pharmacological therapy.https://doi.org/10.1007/s12672-023-00850-9 |
| spellingShingle | Mengting Zhu Valentina Rovella Manuel Scimeca Alessandro Mauriello Yufang Shi Julia Bischof Jonathan Woodsmith Alessandro Anselmo Gerry Melino Giuseppe Tisone Massimiliano Agostini Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype Discover Oncology |
| title | Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype |
| title_full | Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype |
| title_fullStr | Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype |
| title_full_unstemmed | Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype |
| title_short | Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype |
| title_sort | genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype |
| url | https://doi.org/10.1007/s12672-023-00850-9 |
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